title: Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways.
abstract: A 42-year-old Caucasian female with history of neurofibromatosis type 1 presented with nephrotic range proteinuria and focal segmental glomerulosclerosis (FSGS). On final dose of lisinopril 20 mg/day, protein-creatinine ratio declined to 0.33 within 10 months. We propose the hypothesis that development of FSGS in NF1 may be mediated by activation of mitogen-activated protein kinase (MAPK) and mammalian target of rapamycin (mTOR) signaling pathways secondary to up-regulation of ras proteins due to deficient neurofibromin. Since mTOR signaling pathway is partially mediated through angiotensin-II activation, angiotensin-converting enzyme (ACE) inhibition may serve as an effective initial treatment beyond anti-proteinuric properties of ACE-inhibitors.
authors.affiliation: Division of Nephrology, Department of Internal Medicine , University of Michigan , Ann Arbor, MI , USA.
authors.forename: Farsad
authors.initials: F
authors.lastname: Afshinnia
authors.forename: Virginia
authors.initials: V
authors.lastname: Vega-Warner
authors.forename: Paul
authors.initials: P
authors.lastname: Killen
keywords: MAPK; focal segmental glomerulosclerosis; mTOR; neurofibromatosis